Zobrazeno 41 - 50
of 132
pro vyhledávání: '"Jean-Baptiste Rivière"'
Autor:
Julien Thevenon, Sophie Dupuis-Girod, Pierre Ancet, Aurélie Godard, Lorraine Joly, Aurore Pélissier, Christine Juif, Audrey Putoux, Laurence Faivre, Elodie Cretin, Elodie Gautier, Gaetan Lesca, Dominique Salvi, Paulette Morin, Yannis Duffourd, Alice Masurel, Christel Thauvin-Robinet, Olivier Putois, Nolwenn Jean-Marçais, Christine Peyron, Aline Chassagne, Françoise Houdayer, Daphné Lehalle, Marie-Pierre Cordier, D Sanlaville, Massimiliano Rossi, Sophie Béjean, Sarah Kidri, Anne-Sophie Lapointe, Jean-Baptiste Rivière, Patrick Edery, Marianne Till
Publikováno v:
Eur J Hum Genet
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ac94ba50f218916eff8c6631747399e
https://europepmc.org/articles/PMC6461801/
https://europepmc.org/articles/PMC6461801/
Autor:
V. Carmignac, Yannis Duffourd, Geneviève Bernard, Bénédicte Demeer, Didier Bessis, Christel Thauvin, Bernard Devauchelle, Odile Boute, Philippine Garret, Arthur Sorlin, Esther Carmi, Julien Thevenon, Veronica A. Kinsler, Arnaud Lafon, Alain Bron, S.S. Kholmanskikh, Catherine Gondry-Jouet, William B. Dobyns, Guillaume Captier, Paul Kuentz, Pierre Vabres, Jean Benoît Courcet, Laurent Guibaud, David Geneviève, Jean Baptiste Rivière, Satyamaanasa Polubothu, Francesca Faravelli, Judith St-Onge, Laurence Faivre, M. Elizabeth Ross, Michèle Mathieu-Dramard
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Nature Genetics, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Nature Genetics, Nature Publishing Group, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Nature Genetics, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Published Erratum: Correction to: Nature Genetics 51: 1438–1441 https://doi.org/10.1038/s41588-019-0498-4, published online 30 September 2019.In the version of this article initially published, authors Bénédicte Demeer and Bernard Devauchelle wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ccf4d91539d4b9785cff25c5dce97b
https://hal.archives-ouvertes.fr/hal-02423646
https://hal.archives-ouvertes.fr/hal-02423646
Autor:
Pierre Rustin, Emilie Carme, camille lemattre, Yannis Duffourd, Vincent Meyer, Patricia Blanchet, François Rivier, Jean-Baptiste Rivière, Anne Boland, Thomas Guignard, Paule Bénit, Emmanuelle Haquet, Julien Thevenon, Elodie Sanchez, David Geneviève, Marion Imbert-Bouteille, Jean-François Deleuze, Doris Lechner, Agathe Roubertie, Frédéric Tran Mau-Them, Constance Wells, Florence Molinari, Vincent Gatinois
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
Eur J Hum Genet
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
Eur J Hum Genet
International audience; Early infantile epileptic encephalopathy (EIEE) is a heterogeneous group of severe forms of age-related developmental and epileptic encephalopathies with onset during the first weeks or months of life. The interictal electroen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::857005df474d670ce35cd16284e2772d
https://hal.archives-ouvertes.fr/hal-02180849/document
https://hal.archives-ouvertes.fr/hal-02180849/document
Autor:
Alexandre D. Laporte, Judith St-Onge, Laura Russell, Myriam Srour, Jean-Baptiste Rivière, Guillaume Sébire, Nassima Addour-Boudrahem, Christine Saint-Martin, Guy A. Rouleau, Andrea Accogli
Publikováno v:
Neurogenetics. 20(2)
Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex which catalyzes the ligation of amino acids to the correct tRNAs. Pathogenic variants in several aminoacyl-tRNA
Autor:
Julien Thevenon, Ange-Line Bruel, Yannis Duffourd, Laurence Faivre, Jean-Baptiste Rivière, Paul Kuentz, Frédéric Huet, Jean-François Deleuze, Candace Bensignor, Christel Thauvin-Robinet, Florence Roucher, Alice Masurel-Paulet, Joséphine Borgnon, Daphné Lehalle
Publikováno v:
Clinical Genetics. 91:333-338
We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in MAB21L1 de
Autor:
Jean-Baptiste Rivière, Wendy Alcaraz, Sha Tang, Zohreh Fattahi, Maryam Beheshtian, A. Kariminedjad, Laurence Faivre, A.M. Innes, Hossein Najmabadi, Robert Roger Lebel, Katherine L. Helbig, Julien Thevenon, Seyed Hassan Tonekaboni, Chandree L. Beaulieu, Alice Masurel-Paulet, J.S. Amos, Lijia Huang, Kym M. Boycott
Publikováno v:
Clinical Genetics. 91:92-99
THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense
Autor:
Jean-Baptiste Rivière, Alice Masurel-Paulet, Christophe Philippe, Valérie Cormier-Daire, Gregory J. Pazour, Shubha R. Phadke, Virginie Carmignac, Tania Attié-Bitach, Brunella Franco, Laurence Faivre, Magali Avila, Laurence Duplomb, Julien Thevenon, Yannis Duffourd, Christel Thauvin-Robinet, Judith St-Onge, Aline Saunier, Thibaut Eguether, Ange-Line Bruel
Publikováno v:
Clinical Genetics. 90:509-517
The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique c
Autor:
Judith St-Onge, Julien Thevenon, S. El Chehadeh-Djebbar, Mathilde Lefebvre, F. Huet, Patrick Callier, A. Steinmetz, Mondher Chouchane, Jean-Baptiste Rivière, François Feillet, Alice Masurel-Paulet, Véronique Darmency-Stamboul, Christel Thauvin-Robinet, Yannis Duffourd, Laurence Faivre
Publikováno v:
Clinical Genetics. 89:700-707
The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic encephalopathy (EE) results in a diagnostic yield of ∼50%. Affected individuals nonetheless undergo multiple clinical evaluations and low-yield laborato
Autor:
Alice Masurel, Yannis Duffourd, Bénédicte Gérard, Christiane Zweier, Thomas Arnesen, Bernt Popp, Melissa P. Wasserstein, Cyril Mignot, Nicholas AhMew, Laetitia Lampert, Boris Keren, Jean Baptiste Rivière, Caroline Nava, Laurence Faivre, Chloé Saunier, Marjon van Slegtenhorst, Paul Kuentz, Christel Thauvin-Robinet, Marina Blenski, Svein Isungset Støve, Paula Goldenberg, Amélie Piton, André Reis, Julien Thevenon, Frédéric Huet, Ange Line Bruel, Grazia M.S. Mancini, Kamer Tezcan, Charlotte de Bie, Bruno Leheup, Bertrand Isidor
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
International audience; N-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA h
Autor:
David A. Dyment, Judith St-Onge, A. Albanese, Sylvie Manouvrier, S. Garcia, Jean-Baptiste Rivière, Corinne Vigouroux, Delphine Héron, Sahar Mansour, Cynthia J. Curry, Paul Kuentz, D. Delesalle, Leah Slattery, B.L. Luyer, Laurence Faivre, C. Thauvin-Robinet, T. Claudi, Sylvie Odent, Grace Yoon, Frédéric Huet, Jonathan A. Bernstein, S. Mo, Susan M. White, M.-L. Nunes, C. Fagour, Pierre Bitoun, Magali Avila, Sara L. Sawyer, A.M. Innes, Ute Moog, A.A. Lopez, Pål R. Njølstad, Jeanne Amiel, M. Laville, Y. Reznik, Olivier Lascols, Dominique Martin, Martine Le Merrer, Julien Thevenon, Brian Hy Chung, Michèle Mathieu-Dramard, Jørn V. Sagen, Rebekah Jobling, Christine Binquet, Rainer König
Publikováno v:
Clinical Genetics. 89:501-506
SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have